D’Abrusco, Fulvio
Serpieri, Valentina
Taccagni, Cecilia Maria
Garau, Jessica
Cattaneo, Luca
Boggioni, Monica
Gana, Simone
Battini, Roberta
Bertini, Enrico https://orcid.org/0000-0001-9276-4590
Zanni, Ginevra https://orcid.org/0000-0002-6367-1843
Boltshauser, Eugen
Borgatti, Renato
Romaniello, Romina
Signorini, Sabrina
Leuzzi, Vincenzo
Caputi, Caterina
Manti, Filippo
D’Arrigo, Stefano
De Laurentiis, Arianna
Graziano, Claudio https://orcid.org/0000-0003-3875-6869
Lemke, Johannes R. https://orcid.org/0000-0002-4435-6610
Morelli, Federica
Petković Ramadža, Danijela
Sirchia, Fabio
Giorgio, Elisa
Valente, Enza Maria https://orcid.org/0000-0002-0600-6820
Funding for this research was provided by:
Fondazione Telethon (GGP20070)
Ministero della Salute (Ricerca Finalizzata RF-2019-12369368, RC 2023 line 1)
Ministero dell'Istruzione, dell'Università e della Ricerca (MNESYS (PE0000006))
Article History
Received: 27 May 2024
Revised: 2 September 2024
Accepted: 25 September 2024
First Online: 11 October 2024
Competing interests
: The authors declare no competing interests.
: This research study adheres to the principles in the Declaration of Helsinki and was approved by the medical ethical committee of the University of Pavia (Nr. 20210017314 dated 13/05/2021). Written informed consent was obtained from parents or legal representatives of all the enrolled patients for clinical testing and publication of genetic and clinical data.